Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.

Journal of advanced research - 1 Jul 2021

Souissi Amal, Ben Said Mariem, Ben Ayed Ikhlas, Elloumi Ines, Bouzid Amal, Mosrati Mohamed Ali, Hasnaoui Mehdi, Belcadhi Malek, Idriss Nabil, Kamoun Hassen, Gharbi Nourhene, Gibriel Abdullah A, Tlili Abdelaziz, Masmoudi Saber

Abstract excerpt

Introduction: Hearing impairment (HI) is characterized by complex genetic heterogeneity. The evolution of next generation sequencing, including targeted enrichment panels, has revolutionized HI diagnosis. Objectives: In this study, we investigated genetic causes in 22 individuals with non-GJB2 HI. Methods: We customized a HaloplexHS kit to include 30 genes known to be associated with autosomal recessive...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Deafness
Share to Exoribonucleases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Heterogeneity

Share to Hearing Loss

Share to Mitochondrial Proteins

Share to Mutation, Missense

Share to Tunisia

Share to Usher Syndromes

Source

Open in PubMed Open full text

Identifiers

PMID: 34194829
DOI: 10.1016/j.jare.2021.01.005
PMCID: PMC8240103

Genes

CIB2
MYO7A
OTOF
PNPT1
WHRN
ESRRB
GJB2
MYO15A
OTOA
SLC22A4
USH1C

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.PMID 34194829Read ↗

Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.Semantic proximity Read ↗

Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys.Semantic proximity Read ↗

Hearing loss in Africa: current genetic profile.Semantic proximity Read ↗

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.Semantic proximity Read ↗

Genetic etiology of non-syndromic hearing loss in Europe.Semantic proximity Read ↗

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical Correlations.Semantic proximity Read ↗

The Diverse Genetic Landscape of Hearing Impairment in South African Families.Semantic proximity Read ↗

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.Semantic proximity Read ↗

Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.Semantic proximity Read ↗

Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province.Semantic proximity Read ↗

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?Semantic proximity Read ↗

Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.